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Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients

European Journal of Human Genetics volume 32, pages 77–82 (2024)Cite this article

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Abstract

Population genetic screening for preventable adult-onset hereditary conditions may improve disease management and morbidity but most individuals will receive uninformative results that do not indicate higher risk for disease. Investigation into subsequent psychosocial health and behaviors is necessary to inform population screening feasibility, effectiveness, and cost considerations. We conducted a prospective survey study of unselected University of Washington Medicine patients enrolled in a genetic research study screening for pathogenic variation in medically important genes. Survey questions adapted from the Feelings About genomiC Testing Results (FACToR) questionnaire and designed to understand perceived disease risk change and planned health behaviors were administered after receipt of results. Overall, 2761 people received uninformative results and 1352 (49%) completed survey items. Respondents averaged 41 years old, 62% were female, and 56% were Non-Hispanic Asian. Results from the FACToR instrument showed mean (SD) scores of 0.92 (1.34), 7.63 (3.95), 1.65 (2.23), and 0.77 (1.50) for negative emotions, positive emotions, uncertainty, and privacy concerns, respectively, suggesting minimal psychosocial harms from genetic screening. Overall, 12.2% and 9.6% of survey respondents believed that their risk of cancer or heart disease, respectively, had changed after receiving their uninformative genetic screening results. Further, 8.5% of respondents planned to make healthcare changes and 9.1% other behavior changes. Future work is needed to assess observed behavior changes attributable to uninformative screening results and if small changes in behavior among this population have large downstream impacts.

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Fig. 1: Perceived change in disease risk after receiving uninformative genetic results.
Fig. 2: Plans to change behavior after receiving uninformative genetic results.

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Data availability

Datasets generated and/or analyzed during the current study are not publicly available as they include some data from the University of Washington EHR and consent forms did not include broad data sharing. Deidentified datasets generated and/or analyzed during the current study are available from the corresponding author on reasonable request.

Code availability

Code used to analyze study data is available from the corresponding author on reasonable request.

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Acknowledgements

This work was funded by a gift from the Brotman Baty Institute for Precision Medicine.

Funding

This study was funded by the Brotman Baty Institute for Precision Medicine.

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Authors and Affiliations

  1. Institute for Public Health Genetics, University of Washington, Seattle, WA, USA

    Nandana D. Rao, Kristine M. King & Brian H. Shirts

  2. Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA

    Jailanie Kaganovsky, Sajida Hassan, Darwin Tsinajinne & Brian H. Shirts

  3. Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA

    Stephanie M. Fullerton

  4. Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA

    Annie T. Chen

  5. The Comparative Health Outcomes, Policy & Economics (CHOICE) Institute, Department of Pharmacy, University of Washington, Seattle, WA, USA

    David L. Veenstra

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  1. Nandana D. Rao
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  9. Brian H. Shirts
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Contributions

Conceptualization: BHS, DLV, NDR; Data curation: BHS, JK, NDR; Formal analysis: BHS, KK, NDR; Funding acquisition: BHS; Investigation: DT, JK, SH; Methodology: ATC, BHS, NDR; Resources: JK; Software: NDR; Visualization: NDR; Writing-original draft: BHS, NDR; Writing-review & editing: All authors.

Corresponding author

Correspondence to Brian H. Shirts.

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The authors declare no competing interests.

Ethics approval

The study was approved by the University of Washington IRB (00009032) and was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. Written informed consent was obtained from all individual participants included in the study.

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Rao, N.D., King, K.M., Kaganovsky, J. et al. Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients. Eur J Hum Genet 32, 77–82 (2024). https://doi.org/10.1038/s41431-023-01460-3

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